학술논문
'학술논문'
에서 검색결과 282건 | 목록
1~10
Academic Journal
Morris, Joan K.; Bergman, Jorieke E. H.; Barisic, Ingeborg; Wellesley, Diana; Tucker, David; Limb, Elizabeth; Addor, Marie-Claude; Cavero-Carbonell, Clara; Matias Dias, Carlos; Draper, Elisabeth S.; Echevarría-González-de-Garibay, Luis Javier; Gatt, Miriam; Klungsøyr, Kari; Lelong, Nathalie; Luyt, Karen; Materna-Kiryluk, Anna; Nelen, Vera; Neville, Amanda; Perthus, Isabelle; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Geraldine; Wertelecki, Wladimir; Kinsner-Ovaskainen, Agnieszka; Garne, Ester
European Journal of Human Genetics. 32(4):407-412
Academic Journal
Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Kuszel Ł; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Pietras P; Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland.; Leśniczak-Staszak M; Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland.; Andrusiewicz M; Department of Cell Biology, Poznan University of Medical Sciences, Poznan, Poland.; Krawczyński MR; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Latos-Bieleńska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Pawlak M; Department of Ophthalmology, Poznan University of Medical Sciences, Poznan, Poland.; Grenda R; Department of Nephrology, Kidney Transplantation, and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland.; Materna-Kiryluk A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Oud MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Szaflarski W; Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland.
Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653173 Publication Model: eCollection Cited Medium: Print ISSN: 2296-889X (Print) Linking ISSN: 2296889X NLM ISO Abbreviation: Front Mol Biosci Subsets: PubMed not MEDLINE
Academic Journal
Sowińska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Socha M; Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Poznan, Poland.; Szoszkiewicz A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Materna-Kiryluk A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Centers for Medical Genetics GENESIS, Poznan, Poland.; Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Centers for Medical Genetics GENESIS, Poznan, Poland.
Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653173 Publication Model: eCollection Cited Medium: Print ISSN: 2296-889X (Print) Linking ISSN: 2296889X NLM ISO Abbreviation: Front Mol Biosci Subsets: PubMed not MEDLINE
Academic Journal
Kiryluk, Krzysztof; Sanchez-Rodriguez, Elena; Zhou, Xu-Jie; Zanoni, Francesca; Liu, Lili; Mladkova, Nikol; Khan, Atlas; Marasa, Maddalena; Zhang, Jun Y.; Balderes, Olivia; Sanna-Cherchi, Simone; Bomback, Andrew S.; Canetta, Pietro A.; Appel, Gerald B.; Radhakrishnan, Jai; Trimarchi, Hernan; Sprangers, Ben; Cattran, Daniel C.; Reich, Heather; Pei, York; Ravani, Pietro; Galesic, Kresimir; Maixnerova, Dita; Tesar, Vladimir; Stengel, Benedicte; Metzger, Marie; Canaud, Guillaume; Maillard, Nicolas; Berthoux, Francois; Berthelot, Laureline; Pillebout, Evangeline; Monteiro, Renato; Nelson, Raoul; Wyatt, Robert J.; Smoyer, William; Mahan, John; Samhar, Al-Akash; Hidalgo, Guillermo; Quiroga, Alejandro; Weng, Patricia; Sreedharan, Raji; Selewski, David; Davis, Keefe; Kallash, Mahmoud; Vasylyeva, Tetyana L.; Rheault, Michelle; Chishti, Aftab; Ranch, Daniel; Wenderfer, Scott E.; Samsonov, Dmitry; Claes, Donna J.; Akchurin, Oleh; Goumenos, Dimitrios; Stangou, Maria; Nagy, Judit; Kovacs, Tibor; Fiaccadori, Enrico; Amoroso, Antonio; Barlassina, Cristina; Cusi, Daniele; Del Vecchio, Lucia; Battaglia, Giovanni Giorgio; Bodria, Monica; Boer, Emanuela; Bono, Luisa; Boscutti, Giuliano; Caridi, Gianluca; Lugani, Francesca; Ghiggeri, GianMarco; Coppo, Rosanna; Peruzzi, Licia; Esposito, Vittoria; Esposito, Ciro; Feriozzi, Sandro; Polci, Rosaria; Frasca, Giovanni; Galliani, Marco; Garozzo, Maurizio; Mitrotti, Adele; Gesualdo, Loreto; Granata, Simona; Zaza, Gianluigi; Londrino, Francesco; Magistroni, Riccardo; Pisani, Isabella; Magnano, Andrea; Marcantoni, Carmelita; Messa, Piergiorgio; Mignani, Renzo; Pani, Antonello; Ponticelli, Claudio; Roccatello, Dario; Salvadori, Maurizio; Salvi, Erica; Santoro, Domenico; Gembillo, Guido; Savoldi, Silvana; Spotti, Donatella; Zamboli, Pasquale; Izzi, Claudia; Alberici, Federico; Delbarba, Elisa; Florczak, Michał; Krata, Natalia; Mucha, Krzysztof; Pączek, Leszek; Niemczyk, Stanisław; Moszczuk, Barbara; Pańczyk-Tomaszewska, Malgorzata; Mizerska-Wasiak, Malgorzata; Perkowska-Ptasińska, Agnieszka; Bączkowska, Teresa; Durlik, Magdalena; Pawlaczyk, Krzysztof; Sikora, Przemyslaw; Zaniew, Marcin; Kaminska, Dorota; Krajewska, Magdalena; Kuzmiuk-Glembin, Izabella; Heleniak, Zbigniew; Bullo-Piontecka, Barbara; Liberek, Tomasz; Dębska-Slizien, Alicja; Hryszko, Tomasz; Materna-Kiryluk, Anna; Miklaszewska, Monika; Szczepańska, Maria; Dyga, Katarzyna; Machura, Edyta; Siniewicz-Luzeńczyk, Katarzyna; Pawlak-Bratkowska, Monika; Tkaczyk, Marcin; Runowski, Dariusz; Kwella, Norbert; Drożdż, Dorota; Habura, Ireneusz; Kronenberg, Florian; Prikhodina, Larisa; van Heel, David; Fontaine, Bertrand; Cotsapas, Chris; Wijmenga, Cisca; Franke, Andre; Annese, Vito; Gregersen, Peter K.; Parameswaran, Sreeja; Weirauch, Matthew; Kottyan, Leah; Harley, John B.; Suzuki, Hitoshi; Narita, Ichiei; Goto, Shin; Lee, Hajeong; Kim, Dong Ki; Kim, Yon Su; Park, Jin-Ho; Cho, BeLong; Choi, Murim; Van Wijk, Ans; Huerta, Ana; Ars, Elisabet; Ballarin, Jose; Lundberg, Sigrid; Vogt, Bruno; Mani, Laila-Yasmin; Caliskan, Yasar; Barratt, Jonathan; Abeygunaratne, Thilini; Kalra, Philip A.; Gale, Daniel P.; Panzer, Ulf; Rauen, Thomas; Floege, Jürgen; Schlosser, Pascal; Ekici, Arif B.; Eckardt, Kai-Uwe; Chen, Nan; Xie, Jingyuan; Lifton, Richard P.; Loos, Ruth J. F.; Kenny, Eimear E.; Ionita-Laza, Iuliana; Köttgen, Anna; Julian, Bruce A.; Novak, Jan; Scolari, Francesco; Zhang, Hong; Gharavi, Ali G.
Nature Genetics. 55(7):1091-1105
Academic Journal
Joanna Walczak-Sztulpa; Anna Wawrocka; Łukasz Kuszel; Paulina Pietras; Marta Leśniczak-Staszak; Mirosław Andrusiewicz; Maciej R. Krawczyński; Anna Latos-Bieleńska; Marta Pawlak; Ryszard Grenda; Anna Materna-Kiryluk; Machteld M. Oud; Witold Szaflarski
Frontiers in Molecular Biosciences, Vol 10 (2023)
Academic Journal
Anna Sowińska-Seidler; Magdalena Socha; Anna Szoszkiewicz; Anna Materna-Kiryluk; Aleksander Jamsheer
Frontiers in Molecular Biosciences, Vol 10 (2023)
Academic Journal
Morris JK; St George's, University of London, London, United Kingdom.; Wellesley D; Clinical Genetics, University of Southampton and Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Limb E; St George's, University of London, London, United Kingdom.; Bergman JEH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Kinsner-Ovaskainen A; European Commission, Joint Research Centre (JRC), Ispra, Italy.; Addor MC; Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland.; Broughan JM; National Disease Registration Service, NHS Digital, Leeds, United Kingdom.; Cavero-Carbonell C; Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.; Dias CM; Department of Epidemiology, Instituto Nacional de Saúde Doutor Ricardo Jorge; Av padre Cruz, Lisbon, Portugal.; Echevarría-González-de-Garibay LJ; Ministry of Health of the Basque Government, Directorate for Healthcare Planning, Organisation and Evaluation, Vitoria-Gasteiz, Spain.; Gatt M; Directorate for Health Information and Research, Malta Congenital Anomalies Registry, G'Mangia, Malta.; Haeusler M; Medical University of Graz, Austria.; Barisic I; Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia.; Klungsoyr K; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.; Division of Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway.; Lelong N; Université de Paris, INSERM U1153, CRESS, Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), Paris, France.; Materna-Kiryluk A; Polish Registry of Congenital Malformations, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Neville A; Center for Clinical and Epidemiological Research, University of Ferrara, Ferrara, Italy.; Nelen V; Provincial Institute for Hygiene, Antwerp, Belgium.; O'Mahony MT; Department of Public Health, Health Service Executive-South, Cork, Ireland.; Perthus I; Auvergne Registry of Congenital Anomalies (CEMC-Auvergne), Department of Clinical Genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, CNRS-UMR 6602, Institut Pascal, Axe TGI, équipe PEPRADE, Clermont-Ferrand, France.; Pierini A; Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.; Fondazione Toscana Gabriele Monasterio, Pisa, Italy.; Rankin J; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Rissmann A; Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke-University Magdeburg, Magdeburg, Germany.; Rouget F; Brittany Registry of Congenital Anomalies, CHU Rennes, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, Rennes, France.; Sayers G; Health Intelligence, Research and Development Health Service Executive, Dublin, Ireland.; Stevens S; National Disease Registration Service, NHS Digital, Leeds, United Kingdom.; Tucker D; Public Health Knowledge and Research, Public Health Wales, Singleton Hospital, Swansea, United Kingdom.; Garne E; Department of Paediatrics and Adolescent Medicine, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark.
Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE
Academic Journal
Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David; Batourina, Ekaterina; Sampson, Matthew; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina; Vivante, Asaf; Shril, Shirlee; Kil, Byum; Marasà, Maddalena; Zhang, Jun; Na, Young-Ji; Lim, Tze; Ahram, Dina; Weng, Patricia; Heinzen, Erin; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmoliński, Tomasz; Borszewska-Kornacka, Maria; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark; Darlow, John; Puri, Prem; Barton, David; Furth, Susan; Warady, Bradley; Gucev, Zoran; Lozanovski, Vladimir; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida; Campistol, Josep; Jeanpierre, Cécile; Alam, Shumyle; Casale, Pasquale; Wong, Craig; Lin, Fangming; Miranda, Débora; Oliveira, Eduardo; Simões-E-Silva, Ana; Barasch, Jonathan; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia; Mendelsohn, Cathy; Gharavi, Ali; Sanna-Cherchi, Simone
Nature Genetics. 51(1)
Academic Journal
Ahram, Dina F.; Lim, Tze Y.; Ke, Juntao; Jin, Gina; Verbitsky, Miguel; Bodria, Monica; Kil, Byum Hee; Chatterjee, Debanjana; Piva, Stacy E.; Marasa, Maddalena; Zhang, Jun Y.; Cocchi, Enrico; Caridi, Gianluca; Gucev, Zoran; Lozanovski, Vladimir J.; Pisani, Isabella; Izzi, Claudia; Savoldi, Gianfranco; Gnutti, Barbara; Capone, Valentina P.; Morello, William; Guarino, Stefano; Esposito, Pasquale; Lambert, Sarah; Radhakrishnan, Jai; Appel, Gerald B.; Uy, Natalie S.; Rao, Maya K.; Canetta, Pietro A.; Bomback, Andrew S.; Nestor, Jordan G.; Hays, Thomas; Cohen, David J.; Finale, Carolina; Wijk, Joanna A.E. van; La Scola, Claudio; Baraldi, Olga; Tondolo, Francesco; Di Renzo, Dacia; Jamry-Dziurla, Anna; Pezzutto, Alessandro; Manca, Valeria; Mitrotti, Adele; Santoro, Domenico; Conti, Giovanni; Martino, Marida; Giordano, Mario; Gesualdo, Loreto; Zibar, Lada; Masnata, Giuseppe; Bonomini, Mario; Alberti, Daniele; La Manna, Gaetano; Caliskan, Yasar; Ranghino, Andrea; Marzuillo, Pierluigi; Kiryluk, Krzysztof; Krzemień, Grażyna; Miklaszewska, Monika; Lin, Fangming; Montini, Giovanni; Scolari, Francesco; Fiaccadori, Enrico; Arapović, Adela; Saraga, Marijan; McKiernan, James; Alam, Shumyle; Zaniew, Marcin; Szczepańska, Maria; Szmigielska, Agnieszka; Sikora, Przemysław; Drożdż, Dorota; Mizerska-Wasiak, Malgorzata; Mane, Shrikant; Lifton, Richard P.; Tasic, Velibor; Latos-Bielenska, Anna; Gharavi, Ali G.; Ghiggeri, Gian Marco; Materna-Kiryluk, Anna; Westland, Rik; Sanna-Cherchi, Simone
Journal of the American Society of Nephrology. Jun 01, 2023 34(6):1105-1119
Report
Szczawińska-Popłonyk A; Department of Pediatric Pneumonology, Allergology and Clinical Immunology, Institute of Pediatrics, Poznań University of Medical Sciences, Poznań, Poland.; Grześk E; Department of Pediatrics, Hematology and Oncology, Nicolaus Copernicus University, Bydgoszcz, Poland.; Schwartzmann E; English Division, Poznan University of Medical Sciences, Poznań, Poland.; Materna-Kiryluk A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.; Małdyk J; Department of Pathology, Medical University of Warsaw, Warsaw, Poland.
Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE
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